Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
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A Genetic-Pathophysiological Framework for CraniosynostosisCrystal Structure and Functional Characterization of the Complement Regulator Mannose-binding Lectin (MBL)/Ficolin-associated Protein-1 (MAP-1)Quantitative Characterization of the Activation Steps of Mannan-binding Lectin (MBL)-associated Serine Proteases (MASPs) Points to the Central Role of MASP-1 in the Initiation of the Complement Lectin PathwayThe X-ray Crystal Structure of Mannose-binding Lectin-associated Serine Proteinase-3 Reveals the Structural Basis for Enzyme Inactivity Associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) SyndromeThe Serine Protease Domain of MASP-3: Enzymatic Properties and Crystal Structure in Complex with EcotinGenetics and genomic medicine in Saudi ArabiaCOLEC10 is mutated in 3MC patients and regulates early craniofacial development.The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical dataA dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Self-nonself discrimination by the complement system.Developmental activities of the complement pathway in migrating neurons.Compound heterozygous mutations in MASP1 in a deaf child with absent cochlear nerves.Comparison of human blood concentrations of collectin kidney 1 and mannan-binding lectin.Complement in animal development: unexpected roles of a highly conserved pathway.Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delayImproving the design of the agarose spot assay for eukaryotic cell chemotaxis.Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44The lectin pathway of complement and rheumatic heart disease.Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1)Lectin complement protein Collectin 11 (CL-K1) and susceptibility to urinary schistosomiasis.Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome.Biological functions of the novel collectins CL-L1, CL-K1, and CL-P1.Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndromeComplement activation, regulation, and molecular basis for complement-related diseasesExonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusCollectin-11 detects stress-induced L-fucose pattern to trigger renal epithelial injuryMASP-3 is the exclusive pro-factor D activator in resting blood: the lectin and the alternative complement pathways are fundamentally linkedC3 dysregulation due to factor H deficiency is mannan-binding lectin-associated serine proteases (MASP)-1 and MASP-3 independent in vivo.Disease-causing mutations in genes of the complement system.The role of vertebrate models in understanding craniosynostosis.Structural and functional overview of the lectin complement pathway: its molecular basis and physiological implication.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.A journey through the lectin pathway of complement-MBL and beyond.Zebrafish models of orofacial clefts.Sweet complementarity: the functional pairing of glycans with lectins.Dysregulation of Wnt-Signaling and a Candidate Set of miRNAs Underlie the Effect of Metformin on Neural Crest Cell Development.Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
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P2860
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
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2011 nî lūn-bûn
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2011 թուականի Մարտին հրատարակուած գիտական յօդուած
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2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@ast
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@en
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@nl
type
label
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@ast
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@en
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@nl
prefLabel
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@ast
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@en
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@nl
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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
@en
P2093
Alan J Burns
Ali Al Kaissi
Anna Diaz-Font
Aoife Waters
Dagan Jenkins
Elyes Chabchoub
Franco Carnevale
Gabriela F Leal
Hanan Shamseldin
Maria Bitner-Glindzicz
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P2888
P304
P3181
P356
10.1038/NG.757
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P50
P577
2011-01-23T00:00:00Z
P5875
P6179
1026904729